ClinVar

NM_000039.3(APOA1):c.483G>A (p.Leu161=)

Genes:

APOA1-AS:APOA1 antisense RNA [Gene - OMIM - HGNC]
APOA1:apolipoprotein A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 116836129 (on Assembly GRCh38)
• Chr11: 116706845 (on Assembly GRCh37)

Preferred name:

NM_000039.3(APOA1):c.483G>A (p.Leu161=)

HGVS:

• NC_000011.10:g.116836129C>T
• NG_012021.1:g.6494G>A
• NM_000039.3:c.483G>AMANE SELECT
• NM_001318017.2:c.483G>A
• NM_001318018.2:c.483G>A
• NM_001318021.2:c.156G>A
• NP_000030.1:p.Leu161=
• NP_000030.1:p.Leu161=
• NP_001304946.1:p.Leu161=
• NP_001304947.1:p.Leu161=
• NP_001304950.1:p.Leu52=
• NP_001304950.1:p.Leu52=
• LRG_767t1:c.483G>A
• LRG_767:g.6494G>A
• LRG_767p1:p.Leu161=
• NC_000011.9:g.116706845C>T
• NM_000039.1:c.483G>A
• NM_001318021.1:c.156G>A
• NR_126362.1:n.13C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_126362.1:n.13C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000039.3:c.483G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318017.2:c.483G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318018.2:c.483G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318021.2:c.156G>A - synonymous variant - [Sequence Ontology: SO:0001819]